Full data view for gene BTK

BTKbase is part of the IDbases
Information The variants shown are described using the NM_000061.2 transcript reference sequence.

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

VariO/DNA     

VariO/RNA     

VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     

Codon change     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - 1 cga -> tga; 1 Unknown - likely pathogenic g.100630236G>A g.101375248G>A - - BTK_000340 - IDbase_AccNr: A0561 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 - - - - - - - - 0 - - 1 Dr. Mary-Ellen Conley
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - 1 cga -> tga; 1 Unknown - likely pathogenic g.100630236G>A g.101375248G>A - - BTK_000340 - PubMed: Conley, M. E 1994, OMIM:var0008, IDbase_AccNr: A0080 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 2 PubMed: Conley, M. E (1994) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - 1 cga -> tga; 1 Unknown - likely pathogenic g.100630236G>A g.101375248G>A - - BTK_000340 - PubMed: Conley, M. E 1994, OMIM:var0008, IDbase_AccNr: A0081 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 3 PubMed: Conley, M. E (1994) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - 1 cga -> tga; 1 Unknown - likely pathogenic g.100630236G>A g.101375248G>A - - BTK_000340 - PubMed: Kanegane, H 2001, IDbase_AccNr: A1014 - - De novo - - - 0 - DNA ? - - XLA;AGMX-1 P31 PubMed: Kanegane, H (2001) - M - Japan Mongoloid - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH reduced - - 1 cga -> tga; 1 Unknown - likely pathogenic g.100630236G>A g.101375248G>A CGA>TGA [169] - BTK_000340 - PubMed: Vorechovsky, I 1997, IDbase_AccNr: A0224, ESID EL 0044 M78 G1 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 54 PubMed: Vorechovsky, I (1997) - M - Greece - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - 1 cga -> tga; 1 Unknown - likely pathogenic g.100630236G>A g.101375248G>A - - BTK_000340 - IDbase_AccNr: A0811 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 - - A maternal brother diagnosed as possible XLA M - Spain Caucasoid - 0 - - 1 Dr. M. C. Garcia Rodriguez
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - 1 cga -> tga; 1 Unknown - likely pathogenic g.100630236G>A g.101375248G>A - - BTK_000340 - PubMed: Conley, M. E 1995, IDbase_AccNr: A0250 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 Pt. 3.1 PubMed: Conley, M. E (1995) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - 1 cga -> tga; 1 Maternal (confirmed) - likely pathogenic g.100630236G>A g.101375248G>A 169C>T - BTK_000340 mother is carrier PubMed: Wang, Y 2009, IDbase_AccNr: A1310 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P2 PubMed: Wang, Y (2009) - - - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - 1 cga -> tga; 1 Unknown - likely pathogenic g.100630236G>A g.101375248G>A 169C>T - BTK_000340 - PubMed: Tani, S. M 2002, IDbase_AccNr: A0854 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 P9-2 PubMed: Tani, S. M (2002) Relative in BTKbase: A0853; cousin M - Brazil - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH 0.1% - - 1 cga -> tga; 1 Maternal (confirmed) - likely pathogenic g.100630236G>A g.101375248G>A 169C>T - BTK_000340 - PubMed: Tani, S. M 2002, IDbase_AccNr: A0853 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 P9-1 PubMed: Tani, S. M (2002) Relative in BTKbase: A0854; cousin M - Brazil - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - 1 cga -> tga; 1 Unknown - likely pathogenic g.100630236G>A g.101375248G>A 169C>T - BTK_000340 - PubMed: Ritis, K 1998, PubMed: Speletas, M 2001, IDbase_AccNr: A0679 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 6 ref. 1; 1 ref. 2 PubMed: Ritis, K (1998) PubMed: Speletas, M (2001) - M - Greece - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - 1 cga -> tga; 1 Unknown - likely pathogenic g.100630236G>A g.101375248G>A - - BTK_000340 - PubMed: Conley, M. E 2005, IDbase_AccNr: A1082 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 0210 164 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - 1 cga -> tga; 1 Maternal (confirmed) - likely pathogenic g.100630236G>A g.101375248G>A C169>T - BTK_000340 mother is carrier PubMed: Haire, R. N (1997); IDbase_AccNr: A0280 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P39 PubMed: Haire, R. N (1997) - M ? (United States) - - 0 - - 1 Dr. Gary W. Litman
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - 1 cga -> tga; 1 Unknown - likely pathogenic g.100630236G>A g.101375248G>A - - BTK_000340 - PubMed: Zhang, X (2014); IDbase_AccNr: A1521 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 6 PubMed: Zhang, X (2014) - M ? China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - - - Unknown - likely pathogenic g.100630236G>A g.101375248G>A c.169C>T - BTK_000340 - PubMed: Singh 2016, IDbase_AccNr: A1667 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 22 PubMed: Singh 2016 - M ? (India) - - 0 - - 1 Qing Wang
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - - - Maternal (confirmed) - likely pathogenic g.100630236G>A g.101375248G>A 169C>T - BTK_000340 mother is carrier PubMed: Chen XF, 2016, IDbase_AccNr: A1761 - - Germline - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 93 PubMed: Chen XF 2016 - M ? China - - 0 - - 1 Qing Wang
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - - - Unknown - likely pathogenic g.100630236G>A g.101375248G>A - - BTK_000340 - PubMed: Chen XF, 2016, IDbase_AccNr: A1795 - - Unknown - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 153 PubMed: Chen XF 2016 - M ? China - - 0 - - 1 Qing Wang
+/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - - - Unknown - pathogenic g.100630236G>A g.101375248G>A BTK(NM_000061.2):c.37C>T (p.R13*) - BTK_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.37C>T r.(?) p.(Arg13Ter) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - missing protein (VariO:0240) PH - - - - - Maternal (inferred) - likely pathogenic g.100630236G>A g.101375248G>A - - BTK_000340 mother is carrier; sister is not carrier PubMed: Segundo 2018, IDbase_AccNr: A1824 - - Germline - - - 0 - DNA SEQ blood dried blood spots, modified targeted Sanger sequencing protocol XLA;AGMX-1 P11 PubMed: Segundo 2018 - M ? Viet Nam - - 0 - - 1 Gerard C.P. Schaafsma
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